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Inbreeding and congenital heart disease

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Inbreeding and congenital heart disease

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Inbreeding and congenital heart disease

  1. 1. Inbreeding and congenital heart disease The closure ,The worse
  2. 2. Consanguinity All marriages between couples related as second cousins or closer are regarded as consanguineous (derived from the Latin con sanguineus; i.e. sharing the same blood). Medical genetics
  3. 3. Make aware ,save life • Consanguineous unions is susceptible to inherited CHD • Consanguinity is known to contribute to recessive diseases • Consanguinity increases the prevalence of CHD • Most of the studies suffers for clear implication of consanguinity in risking is confounded by sociodemographic ,epigenetic and multiple factors • In consanguineous unions ,at first cousin level and closer, risks more
  4. 4. Prevalence Marital unions between close biological kin are common in many populations, especially in South, Central and West Asia, and North and sub-Saharan Africa, and in migrant communities from those regions now resident in Europe, North America and Oceania. At least 10.4% of the current world population of 7.0 billion persons are consanguineous, with first cousin marriages especially popular Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107(Suppl 1):1779–86.
  5. 5. Grey area ASD and VSD are the most common CHD ,associated with consanguinity because of these 2 are the most common CHD needs further studies
  6. 6. Inbreeding and individual CHD Atrioventricular septal defect (AVSD), pulmonary atresia, pulmonic stenosis, VSD, and ASD were associated Becker SM, Al Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet. 2001;99:8–13.
  7. 7. Inbreeding and individual CHD ASD and PDA were strongly influenced by consanguinity Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart diseases in South India. Ann Hum Biol. 2006;33:519–528.
  8. 8. Inbreeding and individual CHD VSD (OR 2.70, 95% CI 2.07–3.50) and ASD (OR 2.87, 95% CI 1.85– 4.47) Bassili A, Mokhtar SA, Dabous NI, Zaher SR, Mokhtar MM, Zaki A. Risk factors for congenital heart diseases in Alexandria, Egypt. Eur J Epidemiol. 2000;16(9):805–814.
  9. 9. Inbreeding and individual CHD First-cousin marriages: types of CHD including aortic valvular anomalies, ASD, and tetralogy of Fallot (TOF), VSD, and pulmonic stenosis. Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet A. 2003;116:342–347.
  10. 10. Consanguinity and congenital heart disease
  11. 11. Consanguinity and congenital heart disease
  12. 12. Recurrence risk Recurrence risks for non-syndromic CHD often range from 2–6% in the absence of an extended family history of CHD
  13. 13. Politics of multiple factors & polygenetic • It is uncommon for isolated congenital heart disease to be inherited in a classic Mendelian manner, most cases are assumed to be complex. For such multifactorial diseases, the ability to discuss and present precise risks to a concerned family is directly related to our understanding of the basis of disease. Based on the studies reviewed here, which are the best currently available, we still need to strive to understand the relative contribution of genetics versus the environment in congenital heart disease. If we can determine the proportional effect of consanguinity on disease, this may help determine the genetic contribution to a specific complex condition or the comparative role of genetics versus environmental influences.
  14. 14. Epigenetic is a major confounder Environmental factors 1. Blood flow are clearly important in early heart development 2. Teratogens: Rubella or alcohol can contribute to the risk of congenital heart disease 3. A susceptible gene nourishes well in provoking environment
  15. 15. Single nucleotide polymorphisms (SNPs) Determine the ethnic ancestry of an individual based on genetics alone, and the application of next generation methodologies will greatly increase this analytical capacity. Such genomic identity may be able to more precisely estimate the degree of genetic relatedness and identify consanguineous relationships that otherwise could have been missed or miscategorized based on self-report.
  16. 16. Perspective 4 keys areas A consanguineous union may result in a greater risk for congenital heart disease Educate healthcare providers and patients Involve the whole family in counselling It is preventable
  • dnajah

    Jul. 5, 2015

Inbreeding and congenital heart disease

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